ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant nonsyndromic hearing loss 2A by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_004700.4(KCNQ4):c.1259G>A (p.Arg420Gln) rs374078257 0.00026
NM_004700.4(KCNQ4):c.419T>C (p.Ile140Thr) rs200053059 0.00007
NM_004700.4(KCNQ4):c.665G>A (p.Gly222Asp) rs752658856 0.00006
NM_004700.4(KCNQ4):c.1193A>G (p.Glu398Gly) rs773975779 0.00005
NM_004700.4(KCNQ4):c.1342C>T (p.Arg448Trp) rs535365858 0.00005
NM_004700.4(KCNQ4):c.1499G>A (p.Arg500His) rs201025485 0.00005
NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys) rs367890569 0.00003
NM_004700.4(KCNQ4):c.834G>T (p.Thr278=) rs766877660 0.00003
NM_004700.4(KCNQ4):c.686C>T (p.Ser229Leu) rs1016512710 0.00002
NM_004700.4(KCNQ4):c.1202G>A (p.Arg401Gln) rs551509351 0.00001
NM_004700.4(KCNQ4):c.1208C>T (p.Pro403Leu) rs887762794 0.00001
NM_004700.4(KCNQ4):c.1463G>A (p.Arg488His) rs371301199 0.00001
NM_004700.4(KCNQ4):c.1517C>T (p.Ala506Val) rs145732892 0.00001
NM_004700.4(KCNQ4):c.1531G>A (p.Val511Ile) rs778538229 0.00001
NM_004700.4(KCNQ4):c.946-3T>A rs876657840 0.00001
NM_004700.4(KCNQ4):c.1267A>C (p.Ser423Arg) rs368294870
NM_004700.4(KCNQ4):c.1267A>G (p.Ser423Gly) rs368294870
NM_004700.4(KCNQ4):c.242GCC[3] (p.Arg82dup) rs769859021
NM_004700.4(KCNQ4):c.485G>A (p.Gly162Glu)
NM_004700.4(KCNQ4):c.677T>G (p.Leu226Arg)
NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg) rs727504459

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